Variant report
| Variant | rs535110945 |
|---|---|
| Chromosome Location | chr12:48559434-48559435 |
| allele | G/T |
| Outlinks | Ensembl UCSC |
- TF binding region (count:12)
- CpG islands (count:0)
- Chromatin interactive region (count:7)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
(count:12 , 50 per page) page:
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| No. | Transcrition factor | Chromosome Location | Cell Line | Cell type | Cell Stage | Matched TF binding sites |
|---|---|---|---|---|---|---|
| 1 | CTCF | chr12:48559346-48559458 | HUVEC | blood vessel: | n/a | n/a |
| 2 | CTCF | chr12:48559347-48559463 | GM10266 | blood: | n/a | n/a |
| 3 | CTCF | chr12:48558763-48559625 | A549 | lung: | n/a | chr12:48559078-48559087 chr12:48559072-48559090 |
| 4 | CTCF | chr12:48558629-48559470 | HCT-116 | colon: | n/a | chr12:48559078-48559087 chr12:48559072-48559090 |
| 5 | RAD21 | chr12:48558777-48559582 | SK-N-SH | brain: | n/a | chr12:48558865-48558875 |
| 6 | CTCF | chr12:48558808-48559438 | HCT-116 | colon: | n/a | chr12:48559078-48559087 chr12:48559072-48559090 |
| 7 | CTCF | chr12:48559340-48559490 | HepG2 | liver: | n/a | n/a |
| 8 | CTCF | chr12:48559400-48559550 | NHLF | lung: | n/a | n/a |
| 9 | CTCF | chr12:48559360-48559510 | SK-N-SH_RA | brain: | n/a | n/a |
| 10 | CTCF | chr12:48559360-48559510 | AG04449 | skin: | n/a | n/a |
| 11 | SMC3 | chr12:48558842-48559461 | SK-N-SH | brain: | n/a | n/a |
| 12 | CTCF | chr12:48559362-48559442 | Hela-S3 | cervix: | n/a | n/a |
| No data |
(count:7 , 50 per page) page:
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| No. | Distal block | Cell Line | Cell type | Cell Stage |
|---|---|---|---|---|
| 1 | chr12:48559108..48559625-chr12:48848164..48848665,2 | MCF-7 | breast: | |
| 2 | chr12:48477561..48478652-chr12:48558658..48559651,7 | MCF-7 | breast: | |
| 3 | chr12:48477632..48478212-chr12:48558666..48559592,2 | MCF-7 | breast: | |
| 4 | chr12:48559402..48559905-chr12:48574920..48575635,2 | MCF-7 | breast: | |
| 5 | chr12:48559054..48559616-chr12:48570377..48571168,2 | K562 | blood: | |
| 6 | chr12:48549808..48555740-chr12:48556420..48560606,6 | K562 | blood: | |
| 7 | chr12:48239241..48242168-chr12:48557559..48560161,2 | K562 | blood: |
| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| ENSG00000258051 | TF binding region |
| ENSG00000177981 | Chromatin interaction |
| ENSG00000258051 | Chromatin interaction |
Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page:
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| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | esv2758307 | chr12:48429702-48825499 | Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNAmiRNA target site | 57 gene(s) | inside rSNPs | diseases |
| 2 | esv2759898 | chr12:48429702-48825499 | Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNAmiRNA target site | 57 gene(s) | inside rSNPs | diseases |
| 3 | nsv508673 | chr12:48489786-48567138 | Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNAmiRNA target site | 23 gene(s) | inside rSNPs | diseases |
| 4 | nsv8971 | chr12:48536526-48758501 | Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 39 gene(s) | inside rSNPs | diseases |
| 5 | esv34439 | chr12:48541757-48779562 | Bivalent/Poised TSS Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNA | 39 gene(s) | inside rSNPs | diseases |
| 6 | esv2757502 | chr12:48547128-48779562 | Genic enhancers Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNA | 39 gene(s) | inside rSNPs | diseases |
| 7 | nsv976608 | chr12:48558446-48563571 | Enhancers Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer | TF binding regionCpG islandChromatin interactive region | 6 gene(s) | inside rSNPs | diseases |
| No data |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr12:48559400-48559600 | Enhancers | HepG2 | liver |
